{"id":7663,"date":"2023-04-22T16:20:29","date_gmt":"2023-04-22T16:20:29","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=7663"},"modified":"2024-02-09T14:23:48","modified_gmt":"2024-02-09T14:23:48","slug":"peter","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/pt\/lgmd2c\/2023\/04\/22\/peter\/","title":{"rendered":"INDIV\u00cdDUO COM LGMD: Peter"},"content":{"rendered":"

\"Lgmd2c<\/p>\n

Nome<\/strong>: Pedro<\/p>\n

Idade<\/strong>: \u00a010<\/p>\n

Pa\u00eds<\/strong>: EUA<\/p>\n

LGMD Sub-tipo<\/strong>: LGMD 2C\/R5 sarcoglicanopatia gama<\/p>\n

* Preenchido pela m\u00e3e do Peter<\/em><\/p>\n

Com que idade foi diagnosticado<\/strong>?<\/p>\n

A minha m\u00e3e e o meu pai come\u00e7aram a notar um agravamento da fraqueza muscular, o que se tornou muito preocupante, pelo que lev\u00e1mos o Peter ao m\u00e9dico de fam\u00edlia para fazer exames laboratoriais e verificar se se tratava de uma doen\u00e7a neuromuscular. Encontr\u00e1mos uma CK elevada e come\u00e7\u00e1mos a nossa jornada de diagn\u00f3stico - os testes gen\u00e9ticos confirmaram a LGMD 2C.<\/p>\n

Quais foram os seus primeiros SINTOMAS? <\/strong><\/p>\n

Os primeiros sintomas, entre os 6 e os 7 anos, inclu\u00edam hipertrofia dos g\u00e9meos, ligeira marcha sobre os dedos dos p\u00e9s e incapacidade de acompanhar os colegas em desportos adequados \u00e0 idade (ou seja, correr bases, bater bolas de basebol, etc.).<\/p>\n

Os sintomas aos 8-9 anos inclu\u00edam dificuldade em levantar-se do ch\u00e3o usando as pernas para se levantar, dificuldade em subir escadas e quedas frequentes.<\/p>\n

Tem outros familiares que sofrem de LGMD?<\/strong><\/p>\n

A irm\u00e3 mais nova, de 7 anos, foi posteriormente diagnosticada com LGMD 2C. N\u00e3o existem antecedentes familiares de qualquer distrofia.<\/p>\n

Quais s\u00e3o, na sua opini\u00e3o, os maiores desafios de viver com a LGMD?<\/strong>?<\/p>\n

O Peter come\u00e7ou a mostrar algum cansa\u00e7o durante o dia escolar, necessitando de pausas frequentes, tempo extra para chegar \u00e0s aulas e algumas adapta\u00e7\u00f5es nas aulas. A dificuldade em subir escadas e percorrer longas dist\u00e2ncias constitui um desafio quase di\u00e1rio.<\/p>\n

Qual \u00e9 a sua maior realiza\u00e7\u00e3o?<\/strong><\/p>\n

Apesar de ter sido exclu\u00eddo das equipas desportivas e de, por vezes, n\u00e3o conseguir acompanhar o ritmo dos colegas, o Peter estabeleceu amizades maravilhosas ao longo da escola prim\u00e1ria. Quando come\u00e7ou a apresentar sintomas, os seus amigos juntaram-se \u00e0 sua volta para o apoiar e ajudar. O seu vasto grupo de amigos \u00e9 um resultado direto da sua personalidade am\u00e1vel e af\u00e1vel. De facto, a maioria dos seus amigos afirma que o Peter \u00e9 o seu \"melhor amigo\".<\/p>\n

Como \u00e9 que a LGMD o influenciou a tornar-se a pessoa que \u00e9 hoje?<\/strong><\/p>\n

O Peter ainda est\u00e1 a aprender sobre a LGMD. Fal\u00e1mos sobre a sua doen\u00e7a neuromuscular com uma linguagem adequada \u00e0 idade, tendo em conta a capacidade de uma crian\u00e7a de 10 anos para \"pesquisar\" qualquer coisa no Google. Falamos sobre a import\u00e2ncia da fisioterapia, dos alongamentos e do descanso necess\u00e1rio quando se est\u00e1 cansado. O Peter tem lutado para se manter nos \u00faltimos anos, sem se queixar ou desistir, ao mesmo tempo que trabalhava muito mais do que sab\u00edamos. Peter interessa-se por engenharia e arquitetura de avi\u00f5es, porta-avi\u00f5es, navios de guerra, etc. Sonha em projetar e construir navios de guerra, como porta-avi\u00f5es e destroyers.<\/p>\n

O que quer que o mundo saiba sobre a LGMD<\/strong>?<\/p>\n

N\u00f3s, enquanto fam\u00edlia, gostar\u00edamos de sensibilizar para a LGMD, especificamente para os sarcoglicanos. Estas doen\u00e7as heredit\u00e1rias, raras e gen\u00e9ticas podem ocorrer sem qualquer aviso ou historial familiar. A investiga\u00e7\u00e3o sobre a LGMD \u00e9 limitada, tal como as potenciais op\u00e7\u00f5es de tratamento. Um equ\u00edvoco comum sobre a LGMD \u00e9 que pode ocorrer mais tarde na vida e ter uma \"progress\u00e3o lenta\" - no entanto, os sarcoglicanos afectam normalmente as crian\u00e7as e podem ter uma progress\u00e3o r\u00e1pida da doen\u00e7a.<\/p>\n

Se a sua LGMD pudesse ser \"curada\" amanh\u00e3, qual seria a primeira coisa que gostaria de fazer?<\/strong>?<\/p>\n

O Peter gostaria definitivamente de jogar basebol com os seus amigos, correr com o seu irm\u00e3o e aprender a pescar um atum gigante com o pai!<\/p>\n<\/div><\/div><\/div><\/div><\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":7664,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[13,75],"tags":[],"class_list":["post-7663","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-individuals-with-lgmd-interviews","category-lgmd2c"],"acf":[],"yoast_head":"\nINDIVIDUAL WITH LGMD: Peter - LGMD Awareness Foundation<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.lgmd-info.org\/pt\/lgmd2c\/2023\/04\/22\/peter\/\" \/>\n<meta property=\"og:locale\" content=\"pt_PT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"INDIVIDUAL WITH LGMD: Peter - 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